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Nevoid basal cell carcinoma syndrome (NBCCS) manifests multiple defects involving the skin, endocrine and nervous systems, eyes and bones. Mutations in the patched homologue 1 ( PTCH1 ) gene are the underlying causes of NBCCS, leading to aberrant cell proliferation through constitutive activation of the hedgehog signaling pathway. We identified a novel frameshift mutation (c.1207dupT) of  PTCH1  in a NBCCS patient, which might explain multiple cystic lesions and neoplastic growth in the patient.

A novel germline mutation in a patient with nevoid basal cell carcinoma syndrome showing cystic lesion in the lung